Varaico: Literature-Extracted Genetic Variants

Gene:NKX2-5
Variant:p.K192*
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NKX2-5

NM_004387.4:p.K192*

Associated Papers

Genetic Alterations of Transcription Factors and Signaling Molecules Involved in the Development of Congenital Heart Defects-A Narrative Review.

Bolunduț AC et al.

Children (basel, Switzerland), 2023

Nkx2.5: a crucial regulator of cardiac development, regeneration and diseases.

Cao C et al.

Frontiers in Cardiovascular Medicine, 2023

Functional analysis of novel genetic variants of NKX2-5 associated with nonsyndromic congenital heart disease.

Dixit R et al.

American Journal of Medical Genetics. Part A, 2021

Genetic Etiology of Left-Sided Obstructive Heart Lesions: A Story in Development.

Parker LE et al.

Journal of the American Heart Association, 2021

An update on genetic variants of the NKX2-5.

Kolomenski JE et al.

Human Mutation, 2020

A comprehensive in silico analysis, distribution and frequency of human Nkx2-5 mutations; A critical gene in congenital heart disease.

Kalayinia S et al.

Journal of Cardiovascular and Thoracic Research, 2019

Genetics of congenital heart disease.

Edwards JJ et al.

Current Opinion in Cardiology, 2016

A novel NKX2.5 loss-of-function mutation associated with congenital bicuspid aortic valve.

Qu XK et al.

The American Journal of Cardiology, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."